Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085757T= , CM000666.2:g.186085757T= | GRCh38 |
| NC_000004.11:g.187006911T= , CM000666.1:g.187006911T= | GRCh37 |
| NC_000004.10:g.187243905T= | NCBI36 |
| NG_007278.1:g.21603T= , LRG_117:g.21603T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*3151T= | ENSP00000513675.1:n.*3151T= | |
| ENST00000698353.1:n.3474T= | ||
| ENST00000698354.1:c.*884T= | ENSP00000513676.1:n.*884T= | |
| ENST00000296795.8:c.*884T= MANE Select | ENSP00000296795.3:n.*884T= | |
| ENST00000296795.7:c.*884T= | ENSP00000296795.2:n.*884T= | |
| NM_003265.3:c.*884T= MANE Select | NP_003256.1:n.*884T= |